Canonical Allele Identifier: CA8366246
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 1393002
ClinVar RCV Id: RCV001882309
dbSNP Id: rs781010216
ExAC: 17:7918754 G / A
gnomAD v2: 17-7918754-G-A
gnomAD v3: 17-8015436-G-A
gnomAD v4: 17-8015436-G-A
COSMIC: COSM985813
MyVariant Identifiers: chr17:g.7918754G>A (hg19) chr17:g.8015436G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015436G>A , CM000679.2:g.8015436G>A GRCh38
NC_000017.10:g.7918754G>A , CM000679.1:g.7918754G>A GRCh37
NC_000017.9:g.7859479G>A NCBI36
NG_009092.1:g.17767G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2878G>A MANE Select ENSP00000254854.4:p.Val960Met
ENST00000254854.4:c.2878G>A ENSP00000254854.4:p.Val960Met
NM_000180.3:c.2878G>A NP_000171.1:p.Val960Met
XM_011523816.1:c.2878G>A XP_011522118.1:p.Val960Met
NM_000180.4:c.2878G>A MANE Select NP_000171.1:p.Val960Met
Search 100 bp 5'
Search 100 bp 3'